Varaico: Literature-Extracted Genetic Variants

ELMO1

101 papers

RefSeq Summary

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expr...

Pfam Domains

ELMO_Naa 6–80UCSCELMO protein N-terminal Ras-binding domain

ELMO_ARMaa 115–280UCSCELMO, armadillo-like helical domain

ELMO_CED12aa 303–481UCSCELMO/CED-12 family

PH_12aa 548–674UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

engulfment and cell motility 1

HGNC Alias Symbols

KIAA0281; CED12; ELMO-1; CED-12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014800.11

p.A285V

c.854C>T

Surrounding Variants

2 papers

NM_014800.11

p.N287S

c.860A>G

2 papers

NM_014800.11

p.N288K

c.864T>G

2 papers

NM_014800.11

p.N288K

c.864T>A

1 paper

NM_014800.11

p.M290T

c.869T>C

1 paper

NM_014800.11

p.H292Q

c.876C>G

1 paper

NM_014800.11

p.H292Q

c.876C>A

1 paper

NM_014800.11

p.L294P

c.881T>C

1 paper

NM_014800.11

p.L297P

c.890T>C

1 paper

NM_014800.11

p.L305V

c.913C>G

1 paper

NM_014800.11

p.R308K

c.923G>A

1 paper

NM_014800.11

p.K312E

c.934A>G

1 paper

NM_014800.11

p.K312T

c.935A>C